75 (75.6%)
|
Juvenile xanthogranuloma
|
Anemia
Hepatosplenomegaly
Hyperlipoproteinemia
Jaundice
Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.
Orphanet:158000
Find images (Google)
Find case reports
Monarch
GTR:C0043324
|
75 (75.6%)
|
Infant acute respiratory distress syndrome
|
Anemia
Hepatosplenomegaly
Jaundice
Metabolic acidosis
Multifactorial inheritance
Sporadic
Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.
Orphanet:70587
Find images (Google)
Find case reports
Monarch
GTR:C0852283
GTR:C0020192
GTR:C0035220
|
75 (75.6%)
|
Somatostatinoma
|
Anemia
Diabetes mellitus
Hepatomegaly
Jaundice
Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.
Orphanet:97283
Find images (Google)
Find case reports
Monarch
GTR:C0037661
|
75 (75.6%)
|
Congenital toxoplasmosis
|
Anemia
Diabetes mellitus
Hepatosplenomegaly
Jaundice
Congenital toxoplasmosis (CTX) is an embryo-fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by Toxoplasma gondii (Tg).
Orphanet:858
Find images (Google)
Find case reports
Monarch
GTR:C0040560
|
75 (75.6%)
|
Cystic echinococcosis
|
Anemia
Hematuria
Hepatomegaly
Jaundice
Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.
Orphanet:400
Find images (Google)
Find case reports
Monarch
GTR:C0013502
|
75 (75.6%)
|
Dengue fever
|
Anemia
Edema
Hepatomegaly
Jaundice
Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).
Orphanet:99828
Find images (Google)
Find case reports
Monarch
GTR:C0376300
GTR:C0011311
GTR:C0019100
|
75 (75.6%)
|
Chondrosarcoma
|
Anemia
Diabetes mellitus
Hepatosplenomegaly
Jaundice
Autosomal recessive inheritance
Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.
Orphanet:55880
Find images (Google)
Find case reports
Monarch
GTR:C0008479
|
75 (75.6%)
|
AL amyloidosis
|
Anemia
Hepatosplenomegaly
Jaundice
Proteinuria
A plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.
Orphanet:85443
Find images (Google)
Find case reports
Monarch
GTR:C0268381
|
75 (75.6%)
|
Plasmacytoma
|
Anemia
Hepatosplenomegaly
Jaundice
Proteinuria
Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.
Orphanet:86855
Find images (Google)
Find case reports
Monarch
GTR:C0032131
|
75 (75.6%)
|
Leprosy
|
Hemolytic anemia
Hepatosplenomegaly
Jaundice
Proteinuria
A chronic infectious disease affecting primarily the skin and peripheral nervous system.
Orphanet:548
Find images (Google)
Find case reports
Monarch
GTR:C0023343
|
75 (75.6%)
|
Leiomyosarcoma
|
Hemolytic anemia
Hepatomegaly
Jaundice
Proteinuria
Orphanet:64720
Find images (Google)
Find case reports
Monarch
GTR:C0023269
|
75 (75.6%)
|
Polymyositis
|
Hemolytic anemia
Hepatosplenomegaly
Jaundice
Proteinuria
A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.
Orphanet:732
Find images (Google)
Find case reports
Monarch
GTR:C0085655
|
75 (75.6%)
|
Neurofibromatosis type 1
|
Diabetes mellitus
Hepatosplenomegaly
Iron deficiency anemia
Jaundice
Autosomal dominant inheritance
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Orphanet:636
Find images (Google)
Find case reports
Monarch
KEGG:H01437
Gene Reviews
GTR:C0027831
|
75 (75.6%)
|
Small cell lung cancer
|
Hemolytic anemia
Hepatomegaly
Jaundice
Proteinuria
Autosomal dominant inheritance
Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.
Orphanet:70573
Find images (Google)
Find case reports
Monarch
GTR:C0149925
|
75 (75.6%)
|
Thymoma
|
Hemolytic anemia
Hepatosplenomegaly
Jaundice
Proteinuria
Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.
Orphanet:99867
Find images (Google)
Find case reports
Monarch
GTR:C0040100
|
75 (75.6%)
|
Down syndrome
|
Hemolytic anemia
Hepatosplenomegaly
Jaundice
Proteinuria
Sporadic
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Orphanet:870
Find images (Google)
Find case reports
Monarch
KEGG:H01552
GTR:C0013080
|
97 (75.1%)
|
Aggressive systemic mastocytosis
|
Anemia
Cholestasis
Splenomegaly
Xerostomia
A severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.
Orphanet:98850
Find images (Google)
Find case reports
Monarch
GTR:C1112486
|
98 (74.9%)
|
Autoimmune lymphoproliferative syndrome
|
Abnormal vitamin B12 level
Autoimmune hemolytic anemia
Jaundice
Splenomegaly
A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
Orphanet:3261
Find images (Google)
Find case reports
Monarch
GTR:C1328840
|
98 (74.9%)
|
POEMS syndrome
|
Anemia
Jaundice
Polycythemia
Splenomegaly
Vitamin B12 deficiency
POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.
Orphanet:2905
Find images (Google)
Find case reports
Monarch
GTR:C0085404
GTR:C1510415
|
98 (74.9%)
|
Multiple myeloma
|
Abnormality of vitamin B12 metabolism
Hemolytic anemia
Jaundice
Splenomegaly
Autosomal recessive inheritance
Somatic mutation
Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).
Orphanet:29073
Find images (Google)
Find case reports
Monarch
GTR:C0026764
|
98 (74.9%)
|
Tuberculosis
|
Hemolytic anemia
Jaundice
Splenomegaly
Vitamin B12 deficiency
Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.
Orphanet:3389
Find images (Google)
Find case reports
Monarch
GTR:C0041296
|
102 (74.8%)
|
Crigler-Najjar syndrome
|
Hemolytic anemia
Hyperbilirubinemia
Jaundice
Polysplenia
Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
Orphanet:205
Find images (Google)
Find case reports
Monarch
GTR:C0010324
|
102 (74.8%)
|
Murine typhus
|
Anemia
Fever
Jaundice
Splenic rupture
Orphanet:83315
Find images (Google)
Find case reports
Monarch
|
102 (74.8%)
|
Congenital diaphragmatic hernia
|
Anemia
Hypothermia
Jaundice
Splenic rupture
Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Orphanet:2140
Find images (Google)
Find case reports
Monarch
GTR:C0235833
|
102 (74.8%)
|
Hemophilia A
|
Hematuria
Iron deficiency anemia
Jaundice
Splenic rupture
Autosomal dominant inheritance
X-linked recessive inheritance
Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
Orphanet:98878
Find images (Google)
Find case reports
Monarch
KEGG:H00219
Gene Reviews
GTR:C0019069
GTR:C3494187
|
102 (74.8%)
|
Cholangiocarcinoma
|
Diabetes mellitus
Iron deficiency anemia
Jaundice
Polysplenia
Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.
Orphanet:70567
Find images (Google)
Find case reports
Monarch
GTR:C0206698
GTR:C0740277
|
102 (74.8%)
|
Rhabdomyosarcoma
|
Anemia
Hematuria
Jaundice
Splenogonadal fusion
A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.
Orphanet:780
Find images (Google)
Find case reports
Monarch
GTR:C0035412
|
108 (74.8%)
|
Primary sclerosing cholangitis
|
Hemolytic anemia
Jaundice
Low levels of vitamin A
Splenomegaly
Autosomal dominant inheritance
Multifactorial inheritance
Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
Orphanet:171
Find images (Google)
Find case reports
Monarch
KEGG:H01684
GTR:C0566602
|
108 (74.8%)
|
Cystic fibrosis
|
Hemolytic anemia
Jaundice
Low levels of vitamin A
Splenomegaly
Autosomal recessive inheritance
Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.
Orphanet:586
Find images (Google)
Find case reports
Monarch
KEGG:H00218
Gene Reviews
GTR:C0010674
|
110 (74.7%)
|
Eisenmenger syndrome
|
Cyanosis
Hepatomegaly
Iron deficiency anemia
Proteinuria
Eisenmenger syndrome (ES) is a form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.
Orphanet:97214
Find images (Google)
Find case reports
Monarch
GTR:C0013743
|
110 (74.7%)
|
Interatrial communication
|
Cyanosis
Edema
Hepatosplenomegaly
Megaloblastic anemia
Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.
Orphanet:1478
Find images (Google)
Find case reports
Monarch
GTR:C0018817
GTR:C2609256
|
112 (74.6%)
|
Kasabach-Merritt syndrome
|
Hematuria
Hemolytic anemia
Hypersplenism
Jaundice
Autosomal dominant inheritance
Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.
Orphanet:2330
Find images (Google)
Find case reports
Monarch
GTR:C0221025
|
112 (74.6%)
|
Kaposi sarcoma
|
Abnormality of the spleen
Edema
Jaundice
Microangiopathic hemolytic anemia
A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.
Orphanet:33276
Find images (Google)
Find case reports
Monarch
GTR:C0036220
|
114 (74.6%)
|
Rapidly progressive glomerulonephritis
|
Cholecystitis
Hemolytic anemia
Proteinuria
Splenomegaly
Orphanet:280569
Find images (Google)
Find case reports
Monarch
GTR:C0221239
GTR:C0403416
|
114 (74.6%)
|
Mixed connective tissue disease
|
Diabetes mellitus
Hemobilia
Hemolytic anemia
Splenomegaly
Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).
Orphanet:809
Find images (Google)
Find case reports
Monarch
GTR:C0026272
|
114 (74.6%)
|
Leishmaniasis
|
Cholecystitis
Hemolytic anemia
Proteinuria
Splenomegaly
A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).
Orphanet:507
Find images (Google)
Find case reports
Monarch
GTR:C0023281
|
114 (74.6%)
|
22q11.2 deletion syndrome
|
Anemia
Cholelithiasis
Diabetes mellitus
Splenomegaly
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Orphanet:567
Find images (Google)
Find case reports
Monarch
GTR:C0012236
GTR:C0220704
GTR:C0795907
GTR:C2936346
GTR:C3266101
GTR:C0431406
|
114 (74.6%)
|
Polyarteritis nodosa
|
Cholecystitis
Hemolytic anemia
Proteinuria
Splenomegaly
Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.
Orphanet:767
Find images (Google)
Find case reports
Monarch
GTR:C0031036
|
119 (74.4%)
|
AA amyloidosis
|
Cholestasis
Hepatosplenomegaly
Normocytic anemia
Proteinuria
Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.
Orphanet:85445
Find images (Google)
Find case reports
Monarch
GTR:C0221014
|
120 (74.4%)
|
Congenital dyserythropoietic anemia type II
|
Abnormal glycosylation
Hemolytic anemia
Jaundice
Splenomegaly
Autosomal recessive inheritance
Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.
Orphanet:98873
Find images (Google)
Find case reports
Monarch
GTR:C1306589
|